Details for NOTCH3:c.181C>T, p.Arg61Trp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
1530832715197516
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOTCH3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000435.2
CDNA CHANGE c.181C>T
PROTEIN CHANGE p.Arg61Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014770.00019845.828e-050.00020315.496e-050.00.00021980.00033646.566e-05

ESP
AAEA
0.00022730.0004658
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.425974Polymorphism
DBSNP ID rs200595885
1 combination linked to NOTCH3:c.181C>T, p.Arg61Trp OLI002
1 disease linked to NOTCH3:c.181C>T, p.Arg61Trp Idiopathic pulmonary arterial hypertension
Found any issues with the data on this page? Report this entry.